NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) AND Hypokalemic periodic paralysis 1

Clinical significance:Pathogenic (Last evaluated: Apr 28, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000019191.28

Allele description [Variation Report for NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly)]

NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly)

Gene:
CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly)
HGVS:
  • NC_000001.11:g.201053539G>C
  • NG_009816.1:g.64028C>G
  • NM_000069.2:c.3715C>G
  • NP_000060.2:p.Arg1239Gly
  • NC_000001.10:g.201022667G>C
  • Q13698:p.Arg1239Gly
Protein change:
R1239G; ARG1239GLY
Links:
UniProtKB: Q13698#VAR_001501; OMIM: 114208.0002; dbSNP: 28930069
NCBI 1000 Genomes Browser:
rs28930069
Molecular consequence:
  • NM_000069.2:c.3715C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypokalemic periodic paralysis 1 (HOKPP1)
Identifiers:
MedGen: C3714580; Orphanet: 681; OMIM: 170400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039479OMIMno assertion criteria providedPathogenic
(Jun 17, 1994)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000040411GeneReviewsno assertion criteria providedpathologic
(Apr 28, 2009)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al.

Cell. 1994 Jun 17;77(6):863-8.

PubMed [citation]
PMID:
8004673

Primary structure of the receptor for calcium channel blockers from skeletal muscle.

Tanabe T, Takeshima H, Mikami A, Flockerzi V, Takahashi H, Kangawa K, Kojima M, Matsuo H, Hirose T, Numa S.

Nature. 1987 Jul 23-29;328(6128):313-8.

PubMed [citation]
PMID:
3037387

Details of each submission

From OMIM, SCV000039479.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected family members with hypokalemic periodic paralysis (HOKPP1; 170400), Ptacek et al. (1994) demonstrated a C-to-G transversion at a position analogous to basepair 3715 in rabbit cDNA. The change from CGT to GGT predicted a substitution of an arginine residue with a glycine residue at a position corresponding to amino acid 1239 in the rabbit DHP receptor (Tanabe et al., 1987).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000040411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 15, 2017